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Copyright of Die MKG-Chirurgie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Pierre Robin sequence (PRS) is a craniofacial abnormality comprising micrognathia, glossoptosis and airway obstruction, which can impair the newborn's feeding and breathing. While there has been much research around the cause of PRS and most appropriate methods of care, understanding the psychosocial aspects of a PRS diagnosis from the parents' perspective is lacking. The aim of this study is to understand parental experiences of having a child diagnosed with PRS, as well as the role of genetic counselling in PRS. Fourteen semi-structured interviews were conducted with parents of children diagnosed with isolated PRS between 2 and 5 years prior. From these 14 interviews, eleven transcripts were analysed to find common themes and experiences. The diagnosis was confusing and overwhelming for participants during emotionally sensitive periods and little was understood about the cause of their child's PRS. Those participants who did recall experiences with genetic services reported that they were minimal and uninformative. According to participant recollection, genetic counselling was rarely offered, despite there being a potential for this service in PRS. Genetic counselling would be a valuable source of information and support for parents both at the time of antenatal diagnosis, and potentially 6 to 12 months later in the outpatient environment when these children are all routinely reviewed by their clinical care team. [ABSTRACT FROM AUTHOR]

Introduction: The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal pathologies have rarely been reported with PRS. Methods: We explore the molecular genetic basis of this association through a systematic review of spinal disease in patients with PRS. We also present an illustrative case of a PRS patient with tethered cord in the setting of chromosome 10q terminal deletion. Results: Our systematic literature review of spinal disease in patients with PRS revealed several patterns in the underlying genetic syndromes causing these conditions to co-occur. These principles are illustrated in the case of a 6-month-old female with PRS and a 14.34-Mb terminal deletion of chromosome 10q, who was found to have a sacral dimple during a routine outpatient checkup. Magnetic resonance imaging of the spine revealed a lumbar syrinx associated with tethered spinal cord. Surgical de-tethering was undertaken, with subsequent improvement in motor function and decrease in the size of the syrinx. The deletion of chromosome 10q in our patient had not previously been described in association with tethered cord or PRS. Conclusion: Spinal pathologies are understudied contributors to disease burden in patients with PRS. The range of predisposing syndromes and mutations in patients with both PRS and spinal disorders remains poorly characterized but may be more defined than previously conceived. Clinical screening is most critical during neonatal and adolescent developmental periods with continued neurological assessment. This study emphasizes the need for early genetic testing and counseling in this patient population, in parallel with research efforts to develop molecular classifications to guide clinical management. [ABSTRACT FROM AUTHOR]

There are no standardized management algorithms for neonates with Pierre Robin sequence. Currently available literature is variable in terms of outcomes assessed across studies. In this paper, we have aimed to summarize the currently available literature on longitudinal sleep and respiratory outcomes in Pierre Robin sequence neonates with a focus on identifying gaps in literature and areas for future research development. [ABSTRACT FROM AUTHOR]

Bone morphogenetic protein (BMP) signaling plays a crucial role in the development of craniofacial organs. Mutations in numerous members of the BMP signaling pathway lead to several severe human syndromes, including Pierre Robin sequence (PRS) caused by heterozygous loss of BMP2. In this study, we generate mice carrying Bmp2-specific deletion in cranial neural crest cells using floxed Bmp2 and Wnt1-Cre alleles to mimic PRS in humans. Mutant mice exhibit severe PRS with a significantly reduced size of craniofacial bones, cleft palate, malformed tongue and micrognathia. Palate clefting is caused by the undescended tongue that prevents palatal shelf elevation. However, the tongue in Wnt1-Cre;Bmp2f/f mice does not exhibit altered rates of cell proliferation and apoptosis, suggesting contribution of extrinsic defects to the failure of tongue descent. Further studies revealed obvious reduction in cell proliferation and differentiation of osteogenic progenitors in the mandible of the mutants, attributing to the micrognathia phenotype. Our study illustrates the pathogenesis of PRS caused by Bmp2 mutation, highlights the crucial role of BMP2 in the development of craniofacial bones and emphasizes precise coordination in the morphogenesis of palate, tongue and mandible during embryonic development. [ABSTRACT FROM AUTHOR]

Although Robin sequence (RS) is a well-known phenomenon, it is still associated with considerable morbidity and even mortality. The purposes of this study were to gain greater insight into the mortality rate and identify risk factors associated with mortality in RS. We retrospectively reviewed all RS infants followed at the Wilhelmina Children's Hospital from 1995 to 2016. Outcome measurements were death and causes of death. The authors identified 103 consecutive RS infants with a median follow-up of 8.6 years (range 0.1-21.9 years). Ten of the 103 infants (10%) died at a median age of 0.8 years (range 0.1-5.9 years). Nine of these ten infants (90%) were diagnosed with an associated syndrome. Of these, seven infants died of respiratory insufficiency due to various causes (two related to upper airway obstruction). The other two syndromic RS infants died of arrhythmia due to hypernatremia and of West syndrome with status epilepticus. One isolated RS infant died of brain ischemia after MDO surgery. Cardiac anomalies were observed in 41% and neurological anomalies in 36%. The presence of a neurological anomaly was associated with a mortality rate of 40% versus 7% in infants with no neurological anomaly (p = 0.016), with an odds ratio of 8.3 (95% CI 1.4-49.0) for neurological anomaly versus no neurological anomaly. Mortality was 15% in infants with syndromic RS versus 2% in infants with isolated RS (p = 0.044). Mortality was not significantly associated with the presence of a cardiac anomaly, surgical treatment for severe respiratory distress in the neonatal period, or prematurity.Conclusion: RS represents a heterogeneous patient population and is associated with a high level of underlying syndromes. The present study reports a mortality rate of 10% significantly associated with syndromic RS and the presence of neurological anomalies. A multidisciplinary approach in all infants born with RS, including genetic testing and examination of neurological anomalies in a standardized way, is crucial to identify infants with underlying syndromes potentially associated with increased mortality. What is Known: • Reported mortality rates in Robin sequence vary from 2% to 26%. • Clinicians mainly focus on the morbidity of Robin sequence that includes respiratory complications due to upper airway obstruction in the period after birth. • Robin sequence represents a heterogeneous patient population and is associated with a high level of underlying syndromes. What is New: • The present study reports a mortality rate of 10% significantly associated with syndromic Robin sequence and the presence of neurological anomalies. • A multidisciplinary approach in all infants born with Robin sequence, including genetic evaluation and standardized workup for neurological anomalies, is crucial to identify infants with underlying syndromes potentially associated with increased mortality. [ABSTRACT FROM AUTHOR]

Although micrognathia and cleft palate have been reported in patients with Lymphedema-distichiasis syndrome (LDS), the classic Robin sequence with glossoptosis and airway obstruction has not been previously described in patients with genetically confirmed LDS. Here we report on two female siblings with LDS confirmed by a FOXC2 mutation who presented at birth with severe airway obstruction related to Robin sequence. Respiratory obstruction was successfully managed by early distraction osteogenesis. Our report highlights the unusual occurrence of Robin sequence in LDS patients and advises distraction osteogenesis to resolve breathing problems in LDS patients who present with Robin related severe airway obstruction. [ABSTRACT FROM AUTHOR]

Copyright of Der MKG-Chirurg is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Pierre Robin sequence is characterized by micrognathia and glossoptosis causing upper airway obstruction. Mandibular distraction osteogenesis is a mandibular lengthening procedure performed in neonates and children with Pierre Robin sequence to alleviate airway compromise. This pictorial review demonstrates the role of imaging in the preoperative and postoperative assessment of these children. It is important for pediatric radiologists to know what information about the mandible and airway the craniofacial surgeon needs from preoperative imaging and to identify any complications these children may encounter after surgery. [ABSTRACT FROM AUTHOR]

Copyright of Monatsschrift Kinderheilkunde is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Airway management in infants with Pierre Robin sequence (PRS) is often challenging. Advancement of the tongue base using mandibular distraction in neonates can avoid tracheotomy and is increasingly propagated. The osteotomies can be performed via intra- and extraoral approaches. Nowadays, for precise bone cutting, piezosurgical devices have been introduced in maxillofacial surgery, which we used for osteotomies via the intraoral approach in the 7-week-old patient presented in this study. Instead of a preoperative CT scan, a 3D data set was generated preoperatively in the operating theatre using a 3D C-arm system. After bilateral transcutaneous pin placement and osteotomies, a second 3D data set was acquired. Primary and secondary reconstructions clearly visualized the patient’s bone despite the low level of ossification in newborns and the presence of a large amount of metal implants. In view of the low level of radiation exposure going along with the 3D C-arm imaging, a follow-up examination after removal of the distractors was performed. With this report of a 7-week-old female infant with the diagnosis of PRS, we want to extend the surgical and diagnostic armamentarium for the treatment of infants with PRS. [ABSTRACT FROM AUTHOR]

Copyright of HNO is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Unlabelled: We report an infant suffering from Pierre Robin sequence complicated by gastro-oesophageal reflux and failure to thrive, which were resistant to conservative therapy and a hemifundoplication. Gastro-oesophageal reflux was accompanied by supraventricular tachycardia, treated with propafenone. Tachycardia may be present in Pierre Robin sequence as a consequence of cardiac parasympathetic imbalance. The patient recovered completely from the gastro-oesophageal reflux and tachycardia after redo-fundoplication (Nissen) and a hiatoplasty were performed.Conclusion: This case shows that a thorough search for gastro-oesophageal reflux is indicated in each case of Pierre Robin sequence with failure to thrive. [ABSTRACT FROM AUTHOR]

Copyright of Oral & Maxillofacial Surgery is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The Pierre Robin sequence manifests itself in the neonatal period with symptoms of respiratory distress and feeding difficulties. We report our experience in the clinical management of this entity over 14 years and present an appraisal of risk factors for the surgical treatment of the cleft lip/palate and late outcome. Between 1986 and 1999, out of a series of 159 consecutive patients operated in our department for cleft palate closure, 30 had Pierre Robin sequence. Conservative pediatric management included positioning and cardiorespiratory monitoring. In the case of failure of the conservative treatment, endotracheal intubation and/or different surgical procedures were used. The cleft palate was closed according to Malek’s technique. Associated malformations were found in 10 cases (33%) with cardiorespiratory immaturity in five of those patients. Acute respiratory distress was present in 12 newborns (40%). Among them, endotracheal intubation was necessary in seven cases and maintained for 1 to 4 days in three patients. Glossopexy or subperiosteal release of the floor of mouth musculature was done in four of these patients followed by tracheotomy in two. Nasogastric feeding was needed in 14 infants (47%) for a variable period with a mean of 57 days (range 1–210 days). Polysomnography studies, done in 24 patients, showed significant obstructive apnea episodes in 10 infants. Gastroesophageal reflux was found in 11 patients (37%). Hearing loss was found in 29 infants (96%) with a mean threshold of 40 dB. Sensorineural hearing abnormalities were revealed in 10 patients (33%). Palate repair was done at the average age of 5 months (range 3–12 months). Difficulties of intubation were encountered in all the cases with severe malformations (five infants). Myringotomy and/or ventilation tubes were used in 21 infants at the same time of palate closure. An early palatal plate was used before surgery in 18 cases (60%). Immediate postoperative complications included two local hemorrhages and in one of them a surgical exploration was needed to control the bleeding. Postoperative oronasal fistula occurred in eight patients (23%) and further surgery was needed for five of them (16%). Newborns who had associated malformation or severe respiratory distress presented more postoperative complications than those with minimal clinical problems (6/10 vs 2/20 patients respectively, p=0.007). [ABSTRACT FROM AUTHOR]

Copyright of Anaesthesist is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)